Cardiopatias Congénitas e Síndromes

Procurou-se a probabilidade de cada tipo de cardiopatia congénita ocorrer como parte de síndromes malformativas. Estudaram-se em 14 anos 3027 crianças de idade inferior a 13 anos, com diagnóstico definitivo de cardiopatias congénitas bem definidas. A ocorrência de síndromes verificou-se em 208 casos (6,87%). Esta percentagem foi maior nas crianças com fenótipo feminino (8,22%) do que nas crianças com fenótipo masculino (5,51%). Enquadraram-se em síndromes, em percentagens muito superiores os defeitos do septo aurículo-ventricular (38,61%), a atrésia da pulmonar com (16,13%) e sem comunicação inter-ventricular (18,18%), as estenoses das artérias pulmonares (84,21%), a estenose aórtica supravalvular (69,23%) e as dextrocardias com cardiopatia (10%). Englobaram-se em síndromes, em percentagens inferiores a comunicação inter-ventricular, a estenose pulmonar valvular, a tetralogia de Fallot, a estenose aórtica, a comunicação inter-auricular e a coarctação da aorta. A transposição completa dos grandes vasos e outras cardiopatias congénitas mais raras não fizeram parte de síndromes.

Lower Atherosclerotic Burden in Familial Abdominal Aortic Aneurysm

OBJECTIVE: Despite the apparent familial tendency toward abdominal aortic aneurysm (AAA) formation, the genetic causes and underlying molecular mechanisms are still undefined. In this study, we investigated the association between familial AAA (fAAA) and atherosclerosis. METHODS: Data were collected from a prospective database including AAA patients between 2004 and 2012 in the Erasmus University Medical Center, Rotterdam, The Netherlands. Family history was obtained by written questionnaire (93.1% response rate). Patients were classified as fAAA when at least one affected first-degree relative with an aortic aneurysm was reported. Patients without an affected first-degree relative were classified as sporadic AAA (spAAA). A standardized ultrasound measurement of the common carotid intima-media thickness (CIMT), a marker for generalized atherosclerosis, was routinely performed and patients' clinical characteristics (demographics, aneurysm characteristics, cardiovascular comorbidities and risk factors, and medication use) were recorded. Multivariable linear regression analyses were used to assess the mean adjusted difference in CIMT and multivariable logistic regression analysis was used to calculate associations of increased CIMT and clinical characteristics between fAAA and spAAA. RESULTS: A total of 461 AAA patients (85% men, mean age, 70 years) were included in the study; 103 patients (22.3%) were classified as fAAA and 358 patients (77.7%) as spAAA. The mean (standard deviation) CIMT in patients with fAAA was 0.89 (0.24) mm and 1.00 (0.29) mm in patients with spAAA (P = .001). Adjustment for clinical characteristics showed a mean difference in CIMT of 0.09 mm (95% confidence interval, 0.02-0.15; P = .011) between both groups. Increased CIMT, smoking, hypertension, and diabetes mellitus were all less associated with fAAA compared with spAAA. CONCLUSIONS: The current study shows a lower atherosclerotic burden, as reflected by a lower CIMT, in patients with fAAA compared with patients with spAAA, independent of common atherosclerotic risk factors. These results support the hypothesis that although atherosclerosis is a common underlying feature in patients with aneurysms, atherosclerosis is not the primary driving factor in the development of fAAA.

Invasive Assessment of the Coronary Microcirculation Using the Index of Microcirculatory Resistance: Description and Validation of an Animal Model

INTRODUCTION: The index of microcirculatory resistance (IMR) enables/provides quantitative, invasive, and real-time assessment of coronary microcirculation status. AIMS: The primary aim of this study was to validate the assessment of IMR in a large animal model, and the secondary aim was to compare two doses of intracoronary papaverine, 5 and 10 mg, for induction of maximal hyperemia and its evolution over time. METHODS: Measurements of IMR were performed in eight pigs. Mean distal pressure (Pd) and mean transit time (Tmn) were measured at rest and at maximal hyperemia induced with intracoronary papaverine, 5 and 10 mg, and after 2, 5, 8 and 10 minutes. Disruption of the microcirculation was achieved by selective injection of 40-μm microspheres via a microcatheter in the left anterior descending artery. RESULTS: In each animal 14 IMR measurements were made. There were no differences between the two doses of papaverine regarding Pd response and IMR values - 11 ± 4.5 U with 5 mg and 10.6 ± 3 U with 10 mg (p=0.612). The evolution of IMR over time was also similar with the two doses, with significant differences from resting values disappearing after five minutes of intracoronary papaverine administration. IMR increased with disrupted microcirculation in all animals (41 ± 16 U, p=0.001). CONCLUSIONS: IMR provides invasive and real-time assessment of coronary microcirculation. Disruption of the microvascular bed is associated with a significant increase in IMR. A 5-mg dose of intracoronary papaverine is as effective as a 10-mg dose in inducing maximal hyperemia. After five minutes of papaverine administration there is no significant difference from resting hemodynamic status.

Valor da Radiografia Simples do Tórax no Diagnóstico das Cardiopatias

Apresenta-se uma metodologia de observação e de interpretação fisiopatológica do radiograma simples do tórax nas cardiopatias. Começa-se por examinar a vascularização pulmonar, dividindo as cardiopatias em quatro grupos, consoante a mesma está normal, diminuida, aumentada ou desigual. Atenta-se de seguida no aspecto da silhueta cardíaca, procurando diagnosticar quais as câmaras cardíacas predominantemente afectadas. Por fim analisam-se os chamados pontos chave do diagnóstico observando-se o tamanho e posição da aorta ascendente e do arco aórtico; o tronco pulmonar e seus ramos; a aurícula esquerda; a presença ou ausência de calcificações e a presença ou ausência de infundibulo (pequeno arco suplementar situado abaixo do arco aórtico e acima do arco pulmonar).

Alterações Estruturais dos Vasos Pulmonares e Artérias Coronárias na Síndrome do Coração Esquerdo Hipoplásico

Com o objectivo de correlacionar variantes anatómicas com alterações pulmonares e coronárias na síndrome do coração esquerdo hipoplásico (SCEH), fez-se o estudo morfológico e histológico de 15 peças de necrópsia coração-pulmão de recém-nascidos falecidos com aquela patologia. Encontrou-se a forma clássica de SCEH em II peças das quais 3 tinham atrésia da válvula mitral. Nas restantes 4 a aorta saía do ventrículo direito, com ventrículo esquerdo virtual e atrésia da válvula mitral. A histologia pulmonar mostrou aumento da percentagem de espessura das arteríolas e veias pulmonares e extensão intra-acinar da camada muscular das arteríolas em todas as peças. Mas em 8 peças com foramen ovale encerrado ou com diâmetro médio de 5 mm as alterações pulmonares foram mais marcadas do que nas restantes com diâmetro médio do foramen ovale de 9mm. A distribuição coronária foi normal, mas 4 das 8 peças com válvula mitral permeável apresentavam alterações das artérias coronárias não encontradas nas 7 peças com atrésia da válvula mitral. Conclui-se que na SCEH, a existência de foramen ovale encerrado ou restritivo, e de válvula mitral permeável, podem condicionar alterações pulmonares e coronárias, aumentando o risco cirúrgico pelas complicações pós operatórias que possam induzir.

Atheroembolic Renal Disease As a Cause of Allograft Primary Non-Function

Atheroembolic renal disease, also referred to as cholesterol crystal embolization, is a rare cause of renal failure, secondary to occlusion of renal arteries, renal arterioles and glomerular capillaries with cholesterol crystals, originating from atheromatous plaques of the aorta and other major arteries. This disease can occur very rarely in kidney allografts in an early or a late clinical form. Renal biopsy seems to be a reliable diagnostic test and cholesterol clefts are the pathognomonic finding. However, the renal biopsy has some limitations as the typical lesion is focal and can be easily missed in a biopsy fragment. The clinical course of these patients varies from complete recovery of the renal function to permanent graft loss. Statins, acetylsalicyclic acid, and corticosteroids have been used to improve the prognosis. We report a case of primary allograft dysfunction caused by an early and massive atheroembolic renal disease. Distinctive histology is presented in several consecutive biopsies. We evaluated all the cases of our Unit and briefly reviewed the literature. Atheroembolic renal disease is a rare cause of allograft primary non -function but may become more prevalent as acceptance of aged donors and recipients for transplantation has become more frequent.

Angioplastia das Artérias do Sector Aorto-Ilíaco

Efectuou-se angioplastia transluminal percutânea (ATP) do sector aorto-ilíaco em 92 doentes, com lesões de aterosclerose. Conseguiu-se um sucesso inicial de 87,8% e um sucesso tardio de 69,4%. Os resultados tardios foram avaliados objectivamente em 58 doentes, 36 dos quais foram estudados por Angiografia e os restantes por Doppler. Houve complicações em 6,6% dos doentes das quais 2,8% eram graves tendo sido necessária intervenção cirúrgica. A mortalidade foi nula. Os bons resultados iniciais e tardios, a baixa morbilidade e a mortalidade nula levam-nos a concluir que a ATP é um bom método de revascularização altamente eficaz. Os melhores resultados obtiveram-se em doentes sintomáticos com estenose ou oclusão curta e significativa.

Sequestro Pulmonar Intralobar com Malformação Cardíaca Associada

O sequestro pulmonar intralobar geralmente não está associado a outras anomalias congénitas. Apresenta-se o caso clínico de um recém-nascido com diagnóstico pré-natal de anomalia pulmonar com desvio do mediastino,a quem foi diagnosticada uma coartação da aorta ao quinto dia de vida. A tomografia computorizada torácica revelou uma massa sólida na região basal posterior do lobo inferior esquerdo, sugerindo poder corresponder a um sequestro pulmonar intralobar. Foi submetido a cirurgia de correção da coartação da aorta e de ressecção do segmento correspondente de sequestro pulmonar.O exame anatomopatológico confirmou o diagnóstico de sequestro pulmonar intralobar. À data da redação deste trabalho, a criança tinha quatro anos de idade e estava clinicamente bem. O caso ilustra a associação de sequestro pulmonar intralobar a uma malformação cardíaca.

Acute Upper Limb Ischemia, a Rare Presentation of Giant Cell Arteritis

Giant cell arteritis (GCA) is a systemic large vessel vasculitis, with extracranial arterial involvement described in 10-15% of cases, usually affecting the aorta and its branches. Patients with GCA are more likely to develop aortic aneurysms, but these are rarely present at the time of the diagnosis. We report the case of an 80-year-old Caucasian woman, who reported proximal muscle pain in the arms with morning stiffness of the shoulders for eight months. In the previous two months, she had developed worsening bilateral arm claudication, severe pain, cold extremities and digital necrosis. She had no palpable radial pulses and no measurable blood pressure. The patient had normochromic anemia, erythrocyte sedimentation rate of 120 mm/h, and a negative infectious and autoimmune workup. Computed tomography angiography revealed concentric wall thickening of the aorta extending to the aortic arch branches, particularly the subclavian and axillary arteries, which were severely stenotic, with areas of bilateral occlusion and an aneurysm of the ascending aorta (47 mm). Despite corticosteroid therapy there was progression to acute critical ischemia. She accordingly underwent surgical revascularization using a bilateral carotid-humeral bypass. After surgery, corticosteroid therapy was maintained and at six-month follow-up she was clinically stable with reduced inflammatory markers. GCA, usually a chronic benign vasculitis, presented exceptionally in this case as acute critical upper limb ischemia, resulting from a massive inflammatory process of the subclavian and axillary arteries, treated with salvage surgical revascularization.